Xeroderma Pigmentosum

Description

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

Clinical Features

Top most frequent phenotypes and symptoms related to Xeroderma Pigmentosum

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Strabismus

And another 62 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Xeroderma Pigmentosum have a estimated birth prevalence of 0.23 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Xeroderma Pigmentosum Is also known as xeroderma pigmentosum i, xp1, xp, group a, xp.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Xeroderma Pigmentosum Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
15 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
15 %
Fanconi Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BRCA2, BRIP1, FANCL, FANCM, SLX4, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, RAD51C
Specificity
7 %
Genes
15 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
15 %
Fanconi Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BRCA2, BRIP1, FANCL, FANCM, SLX4, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, RAD51C
Specificity
7 %
Genes
15 %
ERCC4 (FANCQ) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ERCC4
Specificity
100 %
Genes
15 %
ERCC4 (FANCQ) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ERCC4
Specificity
100 %
Genes
15 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
15 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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